W8G (p.Trp8Gly) variant of VHL (P40337)
W8G (p.Trp8Gly) in VHL (P40337) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; Von Hippel-Lindau syndrome; Pheochromoc. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
W8G (p.Trp8Gly) variant details
- p.Trp8Gly
- rs1352171735
- ClinGen CA351747059
- ClinVar RCV002042393
- ClinVar RCV003230725
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Von Hippel-Lindau syndrome; Pheochromoc
- Missense
- Variant Prioritization Score for Impact Estimate 0.2
- REVEL 0.24
- MetaLR 0.34
- MetaSVM -0.73
- CADD 2.65
- PolyPhen-2 0.00
- SIFT 0.21
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Von Hippel-Lindau syndr)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Cited in: Clinical utility gene card for: familial erythrocytosis. (PMID 22274579)
- Cited in: Hereditary Paraganglioma-Pheochromocytoma Syndromes. (PMID 20301715)